Canonical Allele Identifier: CA008374

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53111
• ClinVar RCV Id: RCV000057772
• dbSNP Id: rs199472729
• MyVariant Identifiers: chr11:g.2594119T>C (hg19) ; chr11:g.2572889T>C (hg38)
• PubMed: PMID:12442276 ; PMID:19167356 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572889T>C , CM000673.2:g.2572889T>C	GRCh38
NC_000011.9:g.2594119T>C , CM000673.1:g.2594119T>C	GRCh37
NC_000011.8:g.2550695T>C	NCBI36
NG_008935.1:g.132899T>C , LRG_287:g.132899T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.563T>C	ENSP00000434560.2:p.Phe188Ser
ENST00000646564.2:c.478-10546T>C	ENSP00000495806.2:n.478-10546T>C
ENST00000155840.12:c.824T>C MANE Select	ENSP00000155840.2:p.Phe275Ser
ENST00000335475.6:c.443T>C	ENSP00000334497.5:p.Phe148Ser
ENST00000646564.1:c.124-10546T>C	ENSP00000495806.1:n.124-10546T>C
ENST00000155840.9:c.824T>C	ENSP00000155840.2:p.Phe275Ser
ENST00000335475.5:c.443T>C	ENSP00000334497.5:p.Phe148Ser
ENST00000496887.6:c.563T>C	ENSP00000434560.1:p.Phe188Ser
NM_000218.2:c.824T>C , LRG_287t1:c.824T>C	NP_000209.2:p.Phe275Ser
NM_181798.1:c.443T>C , LRG_287t2:c.443T>C	NP_861463.1:p.Phe148Ser
NM_000218.3:c.824T>C MANE Select	NP_000209.2:p.Phe275Ser